A newly recognized syndrome of marfanoid habitus; Long face; Hypotelorism; Long, thin nose; Long, thin hands and feet; and a specific pattern of language and learning disabilities
Contribuinte(s) |
Universidade Estadual Paulista (UNESP) |
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Data(s) |
20/05/2014
20/05/2014
15/12/2007
|
Resumo |
Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance. (C) 2007 Wiley-Liss, Inc. |
Formato |
3137-3139 |
Identificador |
http://dx.doi.org/10.1002/ajmg.a.32024 American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 143A, n. 24, p. 3137-3139, 2007. 1552-4825 http://hdl.handle.net/11449/10696 10.1002/ajmg.a.32024 WOS:000251405100034 |
Idioma(s) |
eng |
Publicador |
Wiley-Blackwell |
Relação |
American Journal of Medical Genetics Part A |
Direitos |
closedAccess |
Palavras-Chave | #tall stature #minor facial anomalies #specific language and learning problems #autosomal dominant inheritance #new syndrome #22q21 region |
Tipo |
info:eu-repo/semantics/article |